Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_059041 | Disease | p.ALA268GLY | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059043 | Disease | p.ALA335PRO | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004632 | Disease | p.ALA234THR | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004635 | Disease | p.ALA317THR | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004636 | Disease | p.ARG320CYS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_058508 | Disease | p.ARG429GLN | Selective pituitary thyroid hormone resistance (PRTH) |
Swiss-Prot | VAR_004634 | Disease | p.ARG316HIS | Selective pituitary thyroid hormone resistance (PRTH) |
Swiss-Prot | VAR_004637 | Disease | p.ARG320HIS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004649 | Disease | p.ARG438HIS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004633 | Disease | p.ARG243TRP | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004640 | Disease | p.ARG338TRP | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059042 | Disease | p.ASN331ASP | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_050577 | Polymorphism | p.ASP216GLY | N/A |
Swiss-Prot | VAR_004652 | Disease | p.CYS446ARG | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004641 | Disease | p.GLN340HIS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004638 | Disease | p.GLY332ARG | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004645 | Disease | p.GLY345ARG | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004646 | Disease | p.GLY347GLU | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004644 | Disease | p.GLY345SER | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004643 | Disease | p.GLY345VAL | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059046 | Disease | p.ILE431MET | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059045 | Disease | p.LEU346PHE | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059044 | Disease | p.LEU341PRO | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004651 | Disease | p.LYS443GLU | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004642 | Disease | p.LYS342ILE | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004650 | Disease | p.MET442VAL | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059049 | Disease | p.PHE459CYS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004653 | Disease | p.PRO453HIS | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059048 | Disease | p.PRO453LEU | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004654 | Disease | p.PRO453SER | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_059047 | Disease | p.PRO447THR | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004655 | Disease | p.PRO453THR | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_011784 | Polymorphism | p.THR337ILE | N/A |
Swiss-Prot | VAR_004648 | Disease | p.THR426ILE | Generalized thyroid hormone resistance (GTHR) |
Swiss-Prot | VAR_004647 | Disease | p.VAL348GLU | Generalized thyroid hormone resistance (GTHR) |
OMIM | 190160.0017 | Disease | p.ALA234THR | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0006 | Disease | p.ALA317THR | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0021 | Disease | p.ARG320CYS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0037 | Disease | p.ARG243GLN | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0018 | Disease | p.ARG316HIS | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY |
OMIM | 190160.0015 | Disease | p.ARG320HIS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0039 | Disease | p.ARG383HIS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0024 | Disease | p.ARG438HIS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0033 | Disease | p.ARG320LEU | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY |
OMIM | 190160.0038 | Disease | p.ARG243TRP | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0023 | Disease | p.ARG338TRP | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, INCLUDED |
OMIM | 190160.0027 | Disease | p.ASP322HIS | THYROID HORMONE RESISTANCE, GENERALIZED |
OMIM | 190160.0034 | Disease | p.CYS446ARG | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0036 | Disease | p.CYS434TER | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0004 | Disease | p.GLN340HIS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0007 | Disease | p.GLY332ARG | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0001 | Disease | p.GLY345ARG | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0029 | Disease | p.GLY345ASP | THYROID HORMONE RESISTANCE, GENERALIZED |
OMIM | 190160.0009 | Disease | p.GLY347GLU | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0014 | Disease | p.GLY345SER | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0008 | Disease | p.GLY345VAL | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0030 | Disease | p.LEU450HIS | THYROID HORMONE RESISTANCE, GENERALIZED |
OMIM | 190160.0019 | Disease | p.LEU325PHE | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY |
OMIM | 190160.0013 | Disease | p.LYS443GLU | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0026 | Disease | p.MET310THR | THYROID HORMONE RESISTANCE, GENERALIZED |
OMIM | 190160.0010 | Disease | p.MET442VAL | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0032 | Disease | p.PHE459CYS | THYROID HORMONE RESISTANCE, GENERALIZED |
OMIM | 190160.0002 | Disease | p.PRO453HIS | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0012 | Disease | p.PRO453THR | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT |
OMIM | 190160.0040 | Disease | p.THR337ALA | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY |
OMIM | 190160.0035 | Disease | p.VAL458ALA | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE |